Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.
J AAPOS
; 21(6): 514-516, 2017 Dec.
Article
em En
| MEDLINE
| ID: mdl-29100834
ABSTRACT
Frank-ter Haar syndrome (FTHS) is an autosomal recessive disorder characterized by abnormalities that affect the development of bone, heart, and eyes. We report a sibling pair with FTHS caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene one sibling had bilateral ocular hypertension and unilateral colobomas of iris, choroid and retina; the other, unilateral myelinated nerve fiber layer of the optic disk and papilledema due to idiopathic intracranial hypertension. Both children had refractive amblyopia and megalocornea.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
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Anormalidades Múltiplas
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Anormalidades do Olho
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Anormalidades Craniofaciais
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Proteínas Adaptadoras de Transdução de Sinal
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Cardiopatias Congênitas
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Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article